Bilateral frontoparietal polymicrogyria

Disease ID:144
Name:Bilateral frontoparietal polymicrogyria
Associated with:1 targets
0 immuno-relevant targets
0 immuno-relevant ligands
Database Links
OMIM: 606854
Orphanet: ORPHA101070

Targets

ADGRG1
Comments:  A human brain cortical malformation called bilateral frontoparietal polymicrogyria cortex is associated with one of eleven different mutations of ADGRG1.
References:  1-6
Mutations:  ADGRG1 is associated with 14 mutation. Click here for details

Ligands

No ligand related data available for Bilateral frontoparietal polymicrogyria

References

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1. Bahi-Buisson N, Poirier K, Boddaert N, Fallet-Bianco C, Specchio N, Bertini E, Caglayan O, Lascelles K, Elie C, Rambaud J et al.. (2010) GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex. Brain, 133 (11): 3194-209. [PMID:20929962]

2. Luo R, Yang HM, Jin Z, Halley DJ, Chang BS, MacPherson L, Brueton L, Piao X. (2011) A novel GPR56 mutation causes bilateral frontoparietal polymicrogyria. Pediatr. Neurol., 45 (1): 49-53. [PMID:21723461]

3. Parrini E, Ferrari AR, Dorn T, Walsh CA, Guerrini R. (2009) Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations. Epilepsia, 50 (6): 1344-53. [PMID:19016831]

4. Piao X, Chang BS, Bodell A, Woods K, Benzeev B, Topcu M, Guerrini R, Goldberg-Stern H, Sztriha L, Dobyns WB, Barkovich AJ, Walsh CA. (2005) Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. Ann Neurol, 58: 680-687. [PMID:16240336]

5. Piao X, Hill RS, Bodell A, Chang BS, Basel-Vanagaite L, Straussberg R, Dobyns WB, Qasrawi B, Winter RM, Innes AM, Voit T, Ross ME, Michaud JL, D├ęscarie JC, Barkovich AJ, Walsh CA. (2004) G protein-coupled receptor-dependent development of human frontal cortex. Science, 303: 2033-2036. [PMID:15044805]

6. Quattrocchi CC, Zanni G, Napolitano A, Longo D, Cordelli DM, Barresi S, Randisi F, Valente EM, Verdolotti T, Genovese E et al.. (2013) Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype. Neurogenetics, 14 (1): 77-83. [PMID:23274687]